Article
MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease.
Genetic testing and molecular biomarkers - 1 Sept 2012
Hatzlhofer Betânia L D, Bezerra Marcos André C, Santos Magnun N N, Albuquerque Dulcinéia M, Freitas Elizabete M, Costa Fernando F, Araújo Aderson S, Muniz Maria Tereza C
Abstract excerpt
Vaso-occlusion is a determinant for most signs and symptoms of sickle-cell anemia (SCA). The mechanisms involved in the pathogenesis of vascular complications in SCA remain unclear. It is known that genetic polymorphisms associated with thrombophilia may be potential modifiers of clinical features of SCA. The genetic polymorphisms C677T and A1298C relating to the enzyme methylenetetrahydrofolate reductase...
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